Paralogue Annotation for CACNA1C residue 212

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 212
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 212

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AV208EInfantile seizures, benignMedium7 22612257
SCN10AI206MBrugada syndromeMedium7 24998131

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.



CACNA1CGLLFHPNAYLRNGWNLLDFIIVVVGLFSAI>L<EQATKA-DGANALGGKGAGFDVKALRAFRV241
CACNA1AGFAFHKGSYLRNGWNVMDFVVVLTGILATV>G<TEF-----------------DLRTLRAVRV199
CACNA1BGFVFHKGSYLRNGWNVMDFVVVLTGILATA>G<TDF-----------------DLRTLRAVRV196
CACNA1DGLLLHPNAYVRNGWNLLDFVIVIVGLFSVI>L<EQLTKETEGGNHSSGKSGGFDVKALRAFRV244
CACNA1EGFIFHKGSYLRNGWNVMDFIVVLSGILATA>G<THFN-------------THVDLRTLRAVRV194
CACNA1FGLVLHPSAYIRNGWNLLDFIIVVVGLFSVL>L<EQGPGRPGDAPHTGGKPGGFDVKALRAFRV210
CACNA1GGI-FGKKCYLGDTWNRLDFFIVIAGMLEYS>L<DLQ---------------NVSFSAVRTVRV184
CACNA1HGL-FGQKCYLGDTWNRLDFFIVVAGMMEYS>L<DGH---------------NVSLSAIRTVRV203
CACNA1IGI-FGKKCYLGDTWNRLDFFIVMAGMVEYS>L<DLQ---------------NINLSAIRTVRV182
CACNA1SGFLFHQDAYLRSGWNVLDFTIVFLGVFTVI>L<EQVNVIQSHTAPMSSKGAGLDVKALRAFRV169
SCN10AGFCLNEFTYLRDPWNWLDFSVITLAYVGTA>I<DLR-----------------GISGLRTFRV219
SCN11AGFILDEFSFLRDPWNWLDSIVIGIAIVSYI>P<GIT----------------IKLLPLRTFRV226
SCN1AGFCLEDFTFLRDPWNWLDFTVITFAYVTEF>V<DLG-----------------NVSALRTFRV220
SCN2AGFCLEDFTFLRDPWNWLDFTVITFAYVTEF>V<DLG-----------------NVSALRTFRV221
SCN3AGFCLEDFTFLRDPWNWLDFSVIVMAYVTEF>V<DLG-----------------NVSALRTFRV220
SCN4AGFCVDDFTFLRDPWNWLDFSVIMMAYLTEF>V<DLG-----------------NISALRTFRV223
SCN5AGFCLHAFTFLRDPWNWLDFSVIIMAYVSEN>I<KLG-----------------NLSALRTFRV223
SCN7AGVWAGSFSFLGDPWNWLDFSVTVFEVIIRY>S<PLD-----------------FIPTLQTART210
SCN8AGFCIDGFTFLRDPWNWLDFSVIMMAYITEF>V<NLG-----------------NVSALRTFRV224
SCN9AGFCVGEFTFLRDPWNWLDFVVIVFAYLTEF>V<NLG-----------------NVSALRTFRV218
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 212 for CACNA1C.